Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_007294.4

p.L413fs

c.1237_1238fs

Surrounding Variants

1 paper

NM_007294.4

p.V412insFs

c.1236dupA

2 papers

NM_007294.4

p.L413V

c.1237T>G

2 papers

NM_007294.4

p.L413L

c.1237T>C

1 paper

NM_007294.4

p.E404_V412delFs

c.1211_1235del25

1 paper

NM_007294.4

p.L413W

c.1238T>G

2 papers

NM_007294.4

p.V412V

c.1236A>G

1 paper

NM_007294.4

p.V412fs

c.1234_1235fs

1 paper

NM_007294.4

p.V412delFs

c.1234_1235delAC

3 papers

NM_007294.4

p.V412A

c.1235T>C

2 papers

NM_007294.4

p.D411_V412Fs

c.1232_1235delinsCAFs

1 paper

NM_007294.4

p.L413F

c.1239G>T

3 papers

NM_007294.4

p.L413fs

c.1237_1238fs